IKBKB - dismech genes

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
IKK2 Deficiency	causative germline
Immunodeficiency 15A	causative germline gain of function	mechanism: IKBKB Kinase Domain Gain-of-Function Variant

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
severe combined immunodeficiency due to IKK2 deficiency MONDO:0014267	AR	Definitive 2023-05-25	IKK2 Deficiency causative
immunodeficiency 15a MONDO:0032599	AD	Moderate 2025-10-24	Immunodeficiency 15A causative

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.